Publications:

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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Cancers

Ognibene, Marzia M; Scala, Marcello M; Iacomino, Michele M; Schiavetti, Irene I; Madia, Francesca F; Traverso, Monica M; Guerrisi, Sara S; Di Duca, Marco M; Caroli, Francesco F; Baldassari, Simona S; Tappino, Barbara B; Romano, Ferruccio F; Uva, Paolo P; Vozzi, Diego D; Chelleri, Cristina C; Piatelli, Gianluca G; Diana, Maria Cristina MC; Zara, Federico F; Capra, Valeria V; Pavanello, Marco M; De Marco, Patrizia P

Publication Date: 2023-03-22

Variant appearance in text: NF1: 5242C>T

PubMed Link: 36980803

Variant Present in the following documents:

• cancers-15-01916.pdf

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Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Genome Medicine

Stoltze, Ulrik Kristoffer UK; Hagen, Christian Munch CM; van Overeem Hansen, Thomas T; Byrjalsen, Anna A; Gerdes, Anne-Marie AM; Yakimov, Victor V; Rasmussen, Simon S; Bækvad-Hansen, Marie M; Hougaard, David Michael DM; Schmiegelow, Kjeld K; Hjalgrim, Henrik H; Wadt, Karin K; Bybjerg-Grauholm, Jonas J

Publication Date: 2023-03-14

Variant appearance in text: NF1: 5242C>T; Arg1748Ter

PubMed Link: 36918911

Variant Present in the following documents:

• 13073_2023_1167_MOESM2_ESM.xlsx, sheet 1

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NF1: 5242C>T; Arg1748Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Cancers

Paterra, Rosina R; Bettinaglio, Paola P; Borghi, Arianna A; Mangano, Eleonora E; Tritto, Viviana V; Cesaretti, Claudia C; Schettino, Carla C; Bordoni, Roberta R; Santoro, Claudia C; Avignone, Sabrina S; Moscatelli, Marco M; Melone, Mariarosa Anna Beatrice MAB; Saletti, Veronica V; Piluso, Giulio G; Natacci, Federica F; Riva, Paola P; Eoli, Marica M

Publication Date: 2022-12-22

Variant appearance in text: NF1: 5242C>T

PubMed Link: 36612057

Variant Present in the following documents:

• cancers-15-00059.pdf

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Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Bmc Cancer

Wen, Hao H; Feng, Zheng Z; Ma, Yutong Y; Liu, Rui R; Ou, Qiuxiang Q; Guo, Qinhao Q; Shen, Yi Y; Wu, Xue X; Shao, Yang Y; Bao, Hua H; Wu, Xiaohua X

Publication Date: 2022-05-16

Variant appearance in text: NF1: 5242C>T

PubMed Link: 35578198

Variant Present in the following documents:

• 12885_2022_9602_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Genes

Buccoliero, Anna Maria AM; Giunti, Laura L; Moscardi, Selene S; Castiglione, Francesca F; Provenzano, Aldesia A; Sardi, Iacopo I; Scagnet, Mirko M; Genitori, Lorenzo L; Caporalini, Chiara C

Publication Date: 2022-03-31

Variant appearance in text: NF1: 5242C>T

PubMed Link: 35456430

Variant Present in the following documents:

• Main text
• genes-13-00624.pdf

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Survival and NF1 Analysis in a Cohort of Orthopedics Patients with Malignant Peripheral Nerve Sheath Tumors.

Sarcoma

Knewitz, Daniel K DK; Anderson, Colin J CJ; Presley, William T WT; Horodyski, MaryBeth M; Scarborough, Mark T MT; Wallace, Margaret R MR

Publication Date: 2021

Variant appearance in text: NF1: 5242C>T

PubMed Link: 34646065

Variant Present in the following documents:

• sarcoma2021-9386823.pdf

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Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Plos Genetics

Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K

Publication Date: 2020-12

Variant appearance in text: NF1: 5242C>T

PubMed Link: 33332384

Variant Present in the following documents:

• Main text
• pgen.1009231.pdf

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Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers

Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V

Publication Date: 2019-11-21

Variant appearance in text: NF1: 5242C>T; Arg1748*

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

View BVdb publication page

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Human Mutation

Koczkowska, Magdalena M; Callens, Tom T; Chen, Yunjia Y; Gomes, Alicia A; Hicks, Alesha D AD; Sharp, Angela A; Johns, Eric E; Uhas, Kim Armfield KA; Armstrong, Linlea L; Bosanko, Katherine Armstrong KA; Babovic-Vuksanovic, Dusica D; Baker, Laura L; Basel, Donald G DG; Bengala, Mario M; Bennett, James T JT; Chambers, Chelsea C; Clarkson, Lola K LK; Clementi, Maurizio M; Cortés, Fanny M FM; Cunningham, Mitch M; D'Agostino, M Daniela MD; Delatycki, Martin B MB; Digilio, Maria C MC; Dosa, Laura L; Esposito, Silvia S; Fox, Stephanie S; Freckmann, Mary-Louise ML; Fauth, Christine C; Giugliano, Teresa T; Giustini, Sandra S; Goetsch, Allison A; Goldberg, Yael Y; Greenwood, Robert S RS; Griffis, Cristin C; Gripp, Karen W KW; Gupta, Punita P; Haan, Eric E; Hachen, Rachel K RK; Haygarth, Tamara L TL; Hernández-Chico, Concepción C; Hodge, Katelyn K; Hopkin, Robert J RJ; Hudgins, Louanne L; Janssens, Sandra S; Keller, Kory K; Kelly-Mancuso, Geraldine G; Kochhar, Aaina A; Korf, Bruce R BR; Lewis, Andrea M AM; Liebelt, Jan J; Lichty, Angie A; Listernick, Robert H RH; Lyons, Michael J MJ; Maystadt, Isabelle I; Martinez Ojeda, Mayra M; McDougall, Carey C; McGregor, Lesley K LK; Melis, Daniela D; Mendelsohn, Nancy N; Nowaczyk, Malgorzata J M MJM; Ortenberg, June J; Panzer, Karin K; Pappas, John G JG; Pierpont, Mary Ella ME; Piluso, Giulio G; Pinna, Valentina V; Pivnick, Eniko K EK; Pond, Dinel A DA; Powell, Cynthia M CM; Rogers, Caleb C; Ruhrman Shahar, Noa N; Rutledge, S Lane SL; Saletti, Veronica V; Sandaradura, Sarah A SA; Santoro, Claudia C; Schatz, Ulrich A UA; Schreiber, Allison A; Scott, Daryl A DA; Sellars, Elizabeth A EA; Sheffer, Ruth R; Siqveland, Elizabeth E; Slopis, John M JM; Smith, Rosemarie R; Spalice, Alberto A; Stockton, David W DW; Streff, Haley H; Theos, Amy A; Tomlinson, Gail E GE; Tran, Grace G; Trapane, Pamela L PL; Trevisson, Eva E; Ullrich, Nicole J NJ; Van den Ende, Jenneke J; Schrier Vergano, Samantha A SA; Wallace, Stephanie E SE; Wangler, Michael F MF; Weaver, David D DD; Yohay, Kaleb H KH; Zackai, Elaine E; Zonana, Jonathan J; Zurcher, Vickie V; Claes, Kathleen B M KBM; Eoli, Marica M; Martin, Yolanda Y; Wimmer, Katharina K; De Luca, Alessandro A; Legius, Eric E; Messiaen, Ludwine M LM

Publication Date: 2020-01

Variant appearance in text: NF1: 5242C>T; Arg1748*

PubMed Link: 31595648

Variant Present in the following documents:

• HUMU-41-299-s005.pdf

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Exome analysis of carotid body tumor.

Bmc Medical Genomics

Snezhkina, Anastasiya V AV; Lukyanova, Elena N EN; Kalinin, Dmitry V DV; Pokrovsky, Anatoly V AV; Dmitriev, Alexey A AA; Koroban, Nadezhda V NV; Pudova, Elena A EA; Fedorova, Maria S MS; Volchenko, Nadezhda N NN; Stepanov, Oleg A OA; Zhevelyuk, Ekaterina A EA; Kharitonov, Sergey L SL; Lipatova, Anastasiya V AV; Abramov, Ivan S IS; Golovyuk, Alexander V AV; Yegorov, Yegor E YE; Vishnyakova, Khava S KS; Moskalev, Alexey A AA; Krasnov, George S GS; Melnikova, Nataliya V NV; Shcherbo, Dmitry S DS; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Alekseev, Boris Y BY; Zaretsky, Andrew R AR; Kudryavtseva, Anna V AV

Publication Date: 2018-02-13

Variant appearance in text: NF1: 5242C>T

PubMed Link: 29504908

Variant Present in the following documents:

• Main text
• 12920_2018_Article_327.pdf

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Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics

Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH

Publication Date: 2017-10

Variant appearance in text: NF1: 5242C>T

PubMed Link: 28955729

Variant Present in the following documents:

• supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf

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Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors.

Nature Genetics

Zhang, Ming M; Wang, Yuxuan Y; Jones, Sian S; Sausen, Mark M; McMahon, Kevin K; Sharma, Rajni R; Wang, Qing Q; Belzberg, Allan J AJ; Chaichana, Kaisorn K; Gallia, Gary L GL; Gokaslan, Ziya L ZL; Riggins, Greg J GJ; Wolinksy, Jean-Paul JP; Wood, Laura D LD; Montgomery, Elizabeth A EA; Hruban, Ralph H RH; Kinzler, Kenneth W KW; Papadopoulos, Nickolas N; Vogelstein, Bert B; Bettegowda, Chetan C

Publication Date: 2014-11

Variant appearance in text: NF1: 5242C>T

PubMed Link: 25305755

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics

Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2011-10

Variant appearance in text: NF1: 5242C>T

PubMed Link: 22155606

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

Human Mutation

Garcia-Linares, Carles C; Fernández-Rodríguez, Juana J; Terribas, Ernest E; Mercadé, Jaume J; Pros, Eva E; Benito, Llúcia L; Benavente, Yolanda Y; Capellà, Gabriel G; Ravella, Anna A; Blanco, Ignacio I; Kehrer-Sawatzki, Hildegard H; Lázaro, Conxi C; Serra, Eduard E

Publication Date: 2011-01

Variant appearance in text: NF1: 5242C>T; Arg1748X

PubMed Link: 21031597

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1.

Haematologica

Steinemann, Doris D; Arning, Larissa L; Praulich, Inka I; Stuhrmann, Manfred M; Hasle, Henrik H; Stary, Jan J; Schlegelberger, Brigitte B; Niemeyer, Charlotte M CM; Flotho, Christian C

Publication Date: 2010-02

Variant appearance in text: NF1: 5242C>T

PubMed Link: 20015894

Variant Present in the following documents:

• Main text

View BVdb publication page

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